12-57225391-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007224.4(NXPH4):c.571C>A(p.Pro191Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,596,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007224.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NXPH4 | NM_007224.4 | c.571C>A | p.Pro191Thr | missense_variant | 2/2 | ENST00000349394.6 | NP_009155.1 | |
NXPH4 | XM_017018747.2 | c.400+171C>A | intron_variant | XP_016874236.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NXPH4 | ENST00000349394.6 | c.571C>A | p.Pro191Thr | missense_variant | 2/2 | 1 | NM_007224.4 | ENSP00000333593 | P1 | |
NXPH4 | ENST00000555154.1 | n.622C>A | non_coding_transcript_exon_variant | 2/2 | 3 | |||||
NXPH4 | ENST00000556415.1 | c.*698C>A | 3_prime_UTR_variant, NMD_transcript_variant | 3/3 | 2 | ENSP00000452288 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151616Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000969 AC: 14AN: 1444492Hom.: 0 Cov.: 31 AF XY: 0.00000836 AC XY: 6AN XY: 717906
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151616Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74090
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 06, 2022 | The c.571C>A (p.P191T) alteration is located in exon 2 (coding exon 2) of the NXPH4 gene. This alteration results from a C to A substitution at nucleotide position 571, causing the proline (P) at amino acid position 191 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at